61. History Of MJD & IJDF International Joseph Disease Foundation machadojoseph disease is truly an international disorder, affecting its victims in very much the same way with the same type of inheritance pattern hence, http://69.10.163.110/bastiana/history.html

What's MJD? MJD Research Make a Donation to IJDF Founding of IJDF ... E-Mail Us Prepared by Rose Marie Silva for IJDF. March 18, 1994. With the advent of a new disease entity, Joseph family members, friends and professionals joined together in 1977 to form the International Joseph Diseases Foundation, a non-profit corporation. Members of the new Board of Directors and physicians were aware of Machado disease and other existing disorders affecting persons of Portuguese ancestry. It was decided to make the word disease plural in the new foundations name to encompass these other neurological diseases. In 1979, scientists working with the Joseph family established, through clinical and pathological studies, that Joseph disease could be expressed in three different ways, with varying symptoms and ages of onset of the disease. Medical researchers have documented the three types of the disease in scientific articles. Due to this variation, Joseph Disease has been referred to as a mysterious disease. During the year, 1980, research teams concluded that both Machado and Joseph disease could be clinically expressed as Type 31. Because Machado and Joseph disease are considered to be one and the same, about the year 1981, medical researchers began referring to the disorder as Machado-Joseph disease or MJD: Machado for the first family described and Joseph for the largest family affected. With the publication of medical articles written by teams of scientist researching both Machado and Joseph disease in the United States, Canada and Portugal, other physicians from within the United States and from other countries realized that some of their patients were also expressing symptoms of the disease. In 1980, it was medically established that the disease can affect persons of other ethnic backgrounds, not just those of Portuguese descent. Due to increased knowledge and worldwide education, Machado-Joseph disease has been documented on five continents. Countries where patients have been reported in medical articles include Japan, China, India, Brazil, the Azores Islands, Spain, Canada, Australia, Taiwan, Italy, and the United States (and possibly other countries from which we have not heard.)

62. About MJD International Joseph Disease Foundation machadojoseph disease is a genetic disorder of the central nervous system that cripples and paralyzes. Symptoms appear when a defective gene causes a http://69.10.163.110/bastiana/whatmjd.html

What's MJD? MJD Research Make a Donation to IJDF Founding of IJDF ... E-Mail Us About MJD MACHADO JOSEPH DISEASE Machado-Joseph Disease is a genetic disorder of the central nervous system that cripples and paralyzes. Symptoms appear when a defective gene causes a breakdown and there is a loss of cells in specific areas of the brain. In 1994 a Japanese research team reported isolating and cloning the MJD gene. As a result a genetic marker for MJD is available for those persons at-risk or those who suspect they may be affected with this disorder. Today, Machado-Joseph disease is also known as Spino-cerebellar Ataxia, Type 3,or SCA/3, a common hereditary ataxia. Unfortunately, Machado-Joseph Disease has been known to be missed diagnosed as Parkinson's disease, Multiple Sclerosis, Huntington's disease and other forms of neurological disorders. There is no known cure for MJD at this time. This website is maintained by staff at Novaspace Galleries Please send feedback to randy@novaspace.com

63. Orbigen Inc. - Orbigen Inc. machadojoseph disease is an autosomal dominant neurologic disorder, machado-joseph disease protein (Mjd) contains a stretch of (CAG)n repeats in the http://www.orbigen.com/commerce/catalog/product.jsp?product_id=1727

64. Orbigen Inc. - Orbigen Inc. machadojoseph disease is an autosomal dominant neurologic disorder, machado-joseph disease protein (MJD) contains a stretch of (CAG)n repeats in the http://www.orbigen.com/commerce/catalog/product.jsp?product_id=1728

65. Search By Disease machadojoseph disease (MJD). 8, Macrocephaly, multiple lipomas and hemangiomata. 9, Macrocephaly, multiple lipomas, and hemangiomata http://www.eddnal.com/directory/disease.php?letter=M

66. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ Books The Official Patient s Sourcebook on machadojoseph disease A Revised and MJD Fact Sheet - In depth look at machado-joseph disease with some http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Machado-Joseph Subtopics See Also: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Neurological Disorders: Spinal Cord: Spinocerebellar Degenerations Search Google: Machado-Joseph News Books Links ... Scientists Must Offer Solutions For Conserving Tropical Forests In A Rapidly Changing World (September 4, 2005) full story Researchers Describe New Cost-effective Method To Assess Sleep (August 30, 2005) full story Duke Researchers Uncover Genetic Link To Stroke After Heart Surgery (August 28, 2005) full story Golfers With Low-back Pain May Be Helped By University Of Pittsburgh Research (August 18, 2005) full story UW-Madison Scientists Zero In On Drugs' Sweet Spots (August 12, 2005) full story Scientists Discover Genetic Pathway Responsible For Breast Cancer Cell Growth (August 10, 2005) full story Faulty Biological Clocks May Influence Addiction (August 7, 2005) full story Living With Salt: Strategy Helps Plant-like, Microscopic Alga Happily Proliferate In Inhospitable Surroundings

67. MeSH-D Terms Associated To MeSH-C Term Machado-Joseph Disease MeSHD terms associated to MeSH-C term machado-joseph disease, G2D Home strength of the association of the corresponding term to machado-joseph disease. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Machado-Joseph_Disease:unknown

68. References For Spinocerebellar Ataxia-14 With The MeSH Term References for Spinocerebellar ataxia14 with the MeSH term machado-joseph disease, G2D Home. PMID and date. Follow the link to see the corresponding entry http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Machado-Joseph_Disea

69. Disabilityexchange.org - Taxonomy machadojoseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary In machado-joseph disease and other spinocerebellar ataxias, http://www.disabilityexchange.org/taxonomy/index.php?fid=3&path=3_299

70. NM_029705 [Mjd] - Machado-Joseph Disease (spinocerebellar Ataxia 3, Olivopontoce Brain Gene Expression Map for machadojoseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) homolog (human) http://www.stjudebgem.org/web/view/probe/viewProbeDetails.php?id=1725

71. MJD Fact Sheet This Article Submitted By Dr. Lewis Sudarsky On 1/9 machadojoseph disease has been recognized with increasing frequency. CLINICAL PRESENTATION machado-joseph disease is dominantly-inherited disorder with http://pages.infinit.net/macmike/internaf/archives/MJD.txt

72. Machado-Joseph Disease: Model For Study In C. Elegans machadojoseph disease (MJD/SCA3) is a neurodegenerative disorder caused by the The purpose of project machado-joseph disease model tor study in c. http://www.ataxia.org/generations/2001/2001fall/maciel.html

Machado-Joseph disease: Model for study in C. elegans Responsible investigator: Patricia Maciel University of Porto Portugal This a summary of research funded by the National Ataxia Foundation in 2001. Machado-Joseph disease (MJD/SCA3) is a neurodegenerative disorder caused by the expansion of a CAG/polyglutamine repeat within the coding region of the Milll gene. Affected individuals have variable combinations of cerebellar ataxia, progressive external opthalmoplegia (paralysis of eye muscle), pyramidal signs, dystonia (impairment of muscle tone) and amyotrophy (muscle wasting). The function. of the Milll gene product, ataxin-3, remains unknown. The purpose of project "Machado-Joseph disease: model tor study in c. elegans", was to study the function of the gene that causes Mill, using as a model a small animal whose genome is already sequenced, the nematode Caenorhabditis elegans. This worm has a gene with a high homology to the human gene. Using a fluorescent "label" (GFP) we found that the C. elegans Milll-Iike gene is expressed in many tissues such as hypodelm, neurons, muscle and intestine of the worm. After silencing this gene, the resulting worms had defects in egg-laying and embryonic development. Precisely how the lack of the gene leads to these problems needs to be further exploited, but it is interesting, to see that similar results were obtained when a gene homologous to the SCA2 gene, involved in another type of ataxia, was silenced in c. elegans (Kiehl et al, 2000).

73. As The Protein Folds: The Tail Of The Gene Tells The Tale Of Machado-Joseph Dise machadojoseph disease is among the most common of the nine known polyglutamine repeat disorders, a family of diseases in which the genetic code for the http://www.medicalnewstoday.com/medicalnews.php?newsid=22093

74. Autosomal Dominant Cerebellar Ataxia - Patient UK Also called machadojoseph disease, affects people of Portuguese-Azorean descent. In machado-joseph disease fluoxetine 20mg daily has been shown to http://www.patient.co.uk/showdoc/40000823/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Autosomal dominant cerebellar ataxia Machado-Joseph disease Most forms of cerebellar ataxia are acquired disorders but hereditary forms can be autosomal dominant , recessive or a few are X-linked. By and large the dominant forms are less severe than recessive ones. The classification includes the following diseases: Autosomal dominant cerebellar ataxia type I, II and III Cerebellar ataxia, dominant pure Cerebello-olivary atrophy Olivo-ponto-cerebellar atrophy Pierre Marie cerebellar ataxia Spinocerebellar ataxia, types 1-8,10-19,21-22 Autosomal dominant spinocerebellar ataxias (ADCA) are clinically and genetically varied disorders characterised by a slow progression of ataxia of gait, stance and limbs, dysarthria with or without oculomotor dysfunction due to cerebellar degeneration. The degenerative process can be limited to the cerebellum (ADCA type III) or may also involve the retina (ADCA type II), optic nerve, ponto-medullary systems, basal ganglia, cerebral cortex, spinal tracts or peripheral nerves (ADCA type I). In the genetic classification, ADCAs are called spinocerebellar ataxias (SCAs) and numbered in the order SCA1 to SCA22. They may show the phenomenon of anticipation with earlier onset and more severe disease in successive generations. Epidemiology Prevalence

75. Article: NINDS Machado-Joseph Disease Information Page: NINDS - CureResearch.com Medical article NINDS machadojoseph disease Information Page NINDS including all symptom, diagnosis, misdiagnosis, treatment and prevention information. http://www.cureresearch.com/artic/ninds_machado_joseph_disease_information_page_

IMPORTANT! Use of this site is subject to our Home Contents Diseases Search Search: Condition Lists By Organ By Class By Prevalence By Deaths ... Full List Current chapter: NINDS Machado-Joseph Disease Information Page: NINDS Next chapters: NINDS Megalencephaly Information Page: NINDS NINDS Melkersson-Rosenthal Syndrome Information Page: NINDS NINDS Menkes Disease Information Page: NINDS NINDS Metachromatic Leukodystrophy Information Page: NINDS ... Malpractice NINDS Machado-Joseph Disease Information Page: NINDS Article title: NINDS Machado-Joseph Disease Information Page: NINDS Main condition: Machado-Joseph Disease Conditions: Machado-Joseph Disease What is Machado-Joseph Disease? Is there any treatment? MJD is incurable, but some symptoms of the disease can be treated. For those patients who show parkinsonian features, levodopa therapy can help for many years. Treatment with antispasmodic drugs, such as baclofen, can help reduce spasticity. Physiotherapy can help patients cope with disability associated with gait problems, and physical aids, such as walkers and wheelchairs, can assist the patient with everyday activities. Other problems, such as sleep disturbances, cramps, and urinary dysfunction, can be treated with medications and medical care. What is the prognosis?

76. MACHADO JOSEPH DISEASE HOW IS machadojoseph disease INHERITED? Machado Joseph Disease is an autosomal dominant disorder. WHERE ARE FAMILIES FOUND WITH MACHADO JOSEPH DISEASE? http://members.tripod.com/~ebs_2/info/mjd.html

setAdGroup('67.18.104.18'); var cm_role = "live" var cm_host = "tripod.lycos.com" var cm_taxid = "/memberembedded" Search: Lycos Tripod Dating Search Share This Page Report Abuse Edit your Site ... Next MACHADO JOSEPH DISEASE-MJD SYMPTOMS OF MACHADO JOSEPH DISEASE *weakness in the arms and legs *spasticity *staggering, lurching gait,easily mistaken for drunkenness *difficulty with speech and swallowing *involuntary eye movements *double vision *frequent urination Symptoms most commonly begin between the ages of 15 and 40, but may appear earlier or much later in life. Progression may be fast or slow, and life expectancy ranges from 10-30 years after the disease begins. Neurologists have classified MJD into three types, depending on age at onset and characteristic symptoms. HOW IS MACHADO-JOSEPH DISEASE INHERITED? Machado Joseph Disease is an autosomal dominant disorder. This means that each child of an affected parent has a 50 percent chance of inheriting the defective gene. MJD does not skip generations, but people at risk who escape the disease will not pass it on to their children or future generations. As with any inherited disorder, MJD is not contagious and cannot be "caught" by people who are not at risk. Prepared by Office of Scientific and Health Reports National Institute of Neurological and Communicative Disorders and Stroke Bethesda, Maryland 20892

77. RootsWeb: GENEALOGY-DNA-L Re: [DNA] The Gene For Machado-Joseph Disease -------- DNA The gene for machadojoseph disease chromosome 14q by Penny Ferguson . Re DNA The gene for machado-joseph disease chromosome http://archiver.rootsweb.com/th/read/GENEALOGY-DNA/2003-06/1056074761

OAS_AD('Top'); GENEALOGY-DNA-L Archives Archiver GENEALOGY-DNA From: Subject: Re: [DNA] The gene for Machado-Joseph disease chromosome 14q Date: Thu, 19 Jun 2003 22:06:01 EDT In a message dated 06/19/03 5:49:39 PM Pacific Daylight Time, writes: Correct. Humans have 23 different chromosomes, and you have one copy of each chromosome from your mother and one from your father for a total of 46. Most chromosomes come in matching pairs, and they are numbered 1-22, with 1 being the largest and 22 being the smallest. The 23rd chromosome is the sex chromosome (X or Y). Women are XX, because they receive an X from their mother and an X from their father. Men are XY, because they receive an X from their mother and a Y from their father. But everyone has two copies of chromosome 14 and all the other non-sex chromosomes ("autosomes"). HaploGROUP is a different concept. This is an over-simplification, but you can think of haplogroups as a way of clustering similar Y chromosome or mtDNA results. Ann Turner - GENEALOGY-DNA List Administrator Search or Browse the archives, Subscribe or Unsubscribe at

78. 4/19/05, Research Roundup - Almanac, Vol. 51, No. 29 machadojoseph disease; Cognitive Therapy as Antidepressants; Mouse Model; DNA Replication. Tail of the Gene Tells the Tale of machado-joseph disease http://www.upenn.edu/almanac/volumes/v51/n29/reround.html

Visit Penn's website var site="s12almanac" Research Roundup Tail of the Gene Tells the Tale of Machado-Joseph Disease Cognitive Therapy Works As Well As Antidepressants Mouse Model for MSA Points to Treatment for Brain Diseases Unchecked DNA Replication Drives Steps Toward Cancer Tail of the Gene Tells the Tale of Machado-Joseph Disease Molecular Cell Machado-Joseph disease is among the most common dominantly inherited ataxias, a neurodegenerative disorder marked by a gradual decay of muscle control. MJD typically appears in adulthood, with a longer repeat expansion being associated with earlier onset and more severe disease. Its symptoms, uncoordinated motor control, worsen with time. To study just how the ataxin-3 protein relates to disease, Dr. Bonini and her colleagues worked in a simple model organism, the fruit fly, engineering flies to express both the normal human ataxin-3 protein and a toxic human disease form of ataxin-3 with an expanded polyglutamine repeat. When both genes are in the same fruit fly, however, the functioning gene helps protect against the effects of the bad one. Their studies demonstrated that the protective function of the ataxin-3 protein does not rely on the multiple repeats in its tail but in a region near the head. Indeed, it seems that removing or altering this region of the gene can accelerate the progress of the disease. Cognitive Therapy Works As Well As Antidepressants Cognitive therapy to treat moderate to severe depression works just as well as antidepressants, according to an authoritative report appearing

79. The Theme Of The Research In This Lab Is The Development Of Animal And Cellular The first main subject of our study is machadojoseph disease, an autosomal machado-joseph disease. - Maciel P, Gaspar C, DeStefano AL, Silveira I, http://ecs2002.ecsaude.uminho.pt/postgrad/2004/gn/P-Maciel_description.htm

Patrícia Maciel The theme of research in my group is the development of animal and cellular models for the molecular study of neurodegenerative disease and neuronal dysfunction The first main subject of our study is Machado-Joseph disease , an autosomal dominant neurological disease with a variable clinical presentation, that begins usually in the adult age and is characterized by spinocerebellar ataxia, limitations of eye movements and variable pyramidal signs, which can be associated with rigidity, in early-onset cases, or with amyotrophy , when the disease starts later in life. Specific groups of neurons degenerate in this disorder, in spite of a widespread expression of its causative gene, . The mutation that causes the disease is of a novel type: the expansion of a CAG tract in the coding region of the gene, leading to the synthesis of an expanded polyglutamine tract in the protein, ataxin-3. The expanded polyglutamine appears to have toxic properties, leading to neuronal dysfunction and death through yet unknown mechanisms. The reason why only specific groups of neurons are affected is also not understood. Specific protein-protein interactions may provide a key to this question, but this and other explanations remain to be explored. The normal function of the gene and ataxin-3 in the cell are not known, and the known homologues of this protein in other species are also novel proteins of unknown function. We are using a Functional Genomics approach to study the function of ataxin-3 in different model organisms; transgenic models of MJD are also being studied in order to clarify the mechanism through which

80. Grewal Et Al. Machado-Joseph Disease Stevanin G, Alnot MO, Brice A, Arnheim N (1999) French machadojoseph disease patients do not exhibit gametic segregation distortion A sperm typing http://galton.uchicago.edu/~mcpeek/data/grewaletal.html

Likelihood analysis of segregation distortion in sperm-typing data for Grewal RP, Cancel G, Leeflang EP, Duerr A, McPeek MS, Draghinas D, Yao X, Stevanin G, Alnot M-O, Brice A, Arnheim N (1999) "French Machado-Joseph Disease patients do not exhibit gametic segregation distortion: A sperm typing analysis" Human Molecular Genetics 8:1779-1784. Data Data are presented from 5 donors who are MJD patients of French descent. For details, see the paper For donor 1, we have the following data on 156 single sperm typed at both the MJD1 locus and at the closely-linked marker D14S1050, where A represents the mutant MJD1 allele, a represents the wild-type MJD1 allele, B represents the D14S1050 allele linked to the mutant MJD1 allele, and b represents the D14S1050 allele linked the the wild-type MJD1 allele. Coamplification data (Donor 1) -b a- ab -B -B-b -Ba- -Bab A- Ab A-a- A-ab AB AB-b ABa- ABab Total For donors 1 through 5, we have the following data on sperm typed at D14S1050, where B represents the allele linked the mutant MJD1 allele while b represents the allele linked to the wild-type MJD1 allele. Donor 1 -b -B -B-b Total Donor 2 -b -B -B-b Total Donor 3 -b -B -B-b Total Donor 4 -b -B -B-b Total Donor 5 -b -B -B-b Total Model We performed a likelihood-based analysis of segregation distortion in the single sperm data using the SPERMSEG program of McPeek (1999) "SPERMSEG: analysis of segregation distortion in sigle-sperm data" American Journal of Human Genetics 65:1195-1197.

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